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Genetic and Rare Diseases Information Center (GARD)

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Neuroaxonal dystrophy, infantile


Other Names for this Disease

  • INAD
  • Infantile neuroaxonal dystrophy
  • Seitelberger disease
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Overview

Neuroaxonal dystrophy, infantile is a type of lipid storage disorder[1] that primarily affects the nervous system.[2] It has two forms, a classical form and an atypical form.[3] It is usually diagnosed in infancy or early childhood and is characterized by a progressive loss of vision, and physical and mental skills. Most cases are caused by mutations in the PLA2G6 gene. There is evidence that at least one other gene may be involved.[2] Neuroaxonal dystrophy, infantile is inherited in an autosomal recessive fashion. Click here to learn more about autosomal recessive inheritance.
Last updated: 7/15/2009

References

  1. McGovern MM. Lipid storage disorders. eMedicine. 2009; http://emedicine.medscape.com/article/945966-overview. Accessed 7/14/2009.
  2. Infantile neuroaxonal dystrophy. Genetics Home Reference. 2007; http://ghr.nlm.nih.gov/condition=infantileneuroaxonaldystrophy. Accessed 7/14/2009.
  3. Gregory A, Hayflick SJ. Infantile neuroaxonal dystrophy. GeneReviews. 2008; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=inad. Accessed 7/14/2009.
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Basic Information

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  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Neuroaxonal dystrophy, infantile. Click on the link to view a sample search on this topic.

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Other Names for this Disease
  • INAD
  • Infantile neuroaxonal dystrophy
  • Seitelberger disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.